Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13

A. M. Bowcock, L. A. Farrer, L. L. Cavalli-Sforza, J. M. Hebert, K. K. Kidd, M. Frydman, B. Bonne-Tamir

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63 Scopus citations

Abstract

Linkage of both several chromosome 13 DNA markers and the locus for the red cell enzyme esterase D (ESD) to Wilson disease (WD), an autosomal recessive disorder affecting copper metabolism, was investigated in five Middle-Eastern kindreds. The single-copy probe 7D2, identifying the polymorphic region D13S10, was demonstrated to lie 7.5 centiMorgans (cM) from the locus, since a maximum lod score of 4.66 at a recombination frequency of .07 (7.5 cM) was found between the locus for WD (WND) and D13S10. Multipoint linkage analysis between several chromosome 13 markers and WND enables us to propose that the order of markers closely linked to WND is as follows: centromere-D13S10-ESD-WND.

Original languageEnglish
Pages (from-to)27-35
Number of pages9
JournalAmerican Journal of Human Genetics
Volume41
Issue number1
StatePublished - 1987
Externally publishedYes

Funding

FundersFunder number
National Institute of Mental HealthR01MH039239

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